相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A genomic view of mosaicism and human disease
Leslie G. Biesecker et al.
NATURE REVIEWS GENETICS (2013)
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders
J. J. T. van Harssel et al.
NEUROGENETICS (2013)
Somatic Mutation, Genomic Variation, and Neurological Disease
Annapurna Poduri et al.
SCIENCE (2013)
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy
Carla Marini et al.
EPILEPSIA (2012)
PCDH19 mutation in Japanese females with epilepsy
Norimichi Higurashi et al.
EPILEPSY RESEARCH (2012)
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
Nicola Specchio et al.
EPILEPSIA (2011)
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Christel Depienne et al.
PLOS GENETICS (2009)
Epilepsy and mental retardation limited to females: an under-recognized disorder
Ingrid E. Scheffer et al.
BRAIN (2008)
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Leanne M. Dibbens et al.
NATURE GENETICS (2008)